UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555391286
rs1555391286
1.000 15 25356868 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1990 2015
dbSNP: rs864309508
rs864309508
0.925 0.080 15 25356778 frameshift variant CA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 0